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Nat Genet. 1994 Aug;7(4):546-51.

A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.

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  • 1Department of Genetics, Harvard Medical School, Boston, Massachussetts 02115.

Abstract

Longitudinal evaluation of a seven generation kindred with an inherited conduction system defect and dilated cardiomyopathy demonstrated autosomal dominant transmission of a progressive disorder that both perturbs atrioventricular conduction and depresses cardiac contractility. To elucidate the molecular genetic basis for this disorder, a genome-wide linkage analysis was performed. Polymorphic loci near the centromere of chromosome 1 demonstrated linkage to the disease locus (maximum multipoint lod score = 13.2 in the interval between D1S305 and D1S176). Based on the disease phenotype and map location we speculate that gap junction protein connexin 40 is a candidate for mutations that result in conduction system disease and dilated cardiomyopathy.

PMID:
7951328
[PubMed - indexed for MEDLINE]
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